We were very excited in 2011 to welcome our second daughter Violet to our family. She was very cute and chubby, there was no reason to suspect that she wouldn’t soon be crawling around pulling everything out of cupboards and getting dirty. Whilst Violet was incredibly sociable and happy she was never a ‘busy’ baby like our other daughter Lola. She seemed more content to watch the world.
She did roll, sit up and crawl as expected, however, she never got dirty or into mischief like her sister. At 12 months we put her cot mattress down low expecting her to stand up, but she was always sitting happily in her cot waiting to be picked up in the mornings. It was at this time we started to have some concerns, but as she was otherwise well, happy and began talking at an early age, we pushed these concerns aside. She continued to make very slow progress physically and could stand holding onto the couch with help.
It was not until she was 15 months old after a bout of illness that we became very concerned as she began to rapidly lose physical skills. She lost the ability to stand, crawl and then sit within a number of months. Whilst this was occurring she was undergoing multiple tests to determine the cause. I remember sitting in the paediatricians office as he rattled off a bunch of possible causes and I quite clearly remember saying to him “but these are degenerative conditions”, “yes” he replied.
I remember feeling physically ill. Disability, yes, ok, illness, yes, ok, we can handle that, but to lose skills, to become weaker until there is little left, it defied how we relate to the world and seemingly the law of the universe. When you grow up you get bigger, stronger more independent not weaker. Violet was diagnosed with SMA type 2 just before her second birthday.
It was a difficult time emotionally but we rallied. The desire to ‘beat’ the disease was strong. Hope was high. We bought her a special wheelchair that allowed her to stand, we took her swimming every day, and we made multiple six hour return trips to see specialists and to get orthotics made. Whilst we have had some victories along the way, like Violet learning to swim on her own, we were constantly reminded that the war was already lost despite anything we could do. This realisation hits home hard at times, particularly when we took home her night breathing machine.
Just before Christmas last year, a new drug was approved in the U.S for the treatment of SMA. The results had been so promising that the study was halted part way through to allow children on the placebo to access the drug. At the moment the drug is only available in the U.S., but it has for the first time given us hope that perhaps degeneration does not have to be part of Violet’s future. Maybe she can even gain some strength. We can imagine a future where her hand might not shake so she can practise her writing and colour inside the lines, where she can breathe on her own overnight, where she is strong enough to hold her own fork to eat and give her little brother and older sister hugs, and maybe even be able to get in and out of her wheelchair on her own.
Our specialist likened this drug to the discovery of chemotherapy to treat cancer, it made not only survival but life possible. We hope that with this drug Violet may live with SMA, not die from it.